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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:juvenile myoclonic epilepsy
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Accession:DOID:4890 term browser browse the term
Definition:A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Synonyms:exact_synonym: Adolescent Myoclonic Epilepsies;   Adolescent Myoclonic Epilepsy;   EJM;   Impulsive Petit Mal Epilepsy;   JME;   JME (Juvenile Myoclonic Epilepsy);   Janz Impulsive Petit Mal;   Janz Juvenile Myoclonic Epilepsy;   Janz Syndrome;   Juvenile Myoclonic Epilepsies;   Juvenile Myoclonic Epilepsy of Janz;   Myoclonic Epilepsy, Juvenile, 1;   Petit Mal, Impulsive;   Petit Mals, Impulsive
 narrow_synonym: EJM1;   JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
 primary_id: MESH:D020190
 alt_id: OMIM:254770
 xref: GARD:6808;   NCI:C84796;   OMIM:PS254770;   ORDO:307;   ORDO:862
For additional species annotation, visit the Alliance of Genome Resources.



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juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 ISO DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by OMIM:254770
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:106,590,662...106,595,345
Ensembl chr 7:106,589,484...106,596,371
JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 More... NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar
OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 susceptibility ISO OMIM NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      electroclinical syndrome 712
        absence epilepsy 109
          adolescence-adult electroclinical syndrome 37
            juvenile myoclonic epilepsy 10
              idiopathic generalized epilepsy 11 1
              idiopathic generalized epilepsy 13 1
              idiopathic generalized epilepsy 7 1
              juvenile myoclonic epilepsy 10 1
              juvenile myoclonic epilepsy 3 0
              juvenile myoclonic epilepsy 4 0
              juvenile myoclonic epilepsy 9 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            epilepsy 2182
              electroclinical syndrome 712
                absence epilepsy 109
                  adolescence-adult electroclinical syndrome 37
                    juvenile myoclonic epilepsy 10
                      idiopathic generalized epilepsy 11 1
                      idiopathic generalized epilepsy 13 1
                      idiopathic generalized epilepsy 7 1
                      juvenile myoclonic epilepsy 10 1
                      juvenile myoclonic epilepsy 3 0
                      juvenile myoclonic epilepsy 4 0
                      juvenile myoclonic epilepsy 9 0
paths to the root